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A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.
Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, Martinez R, Yamazaki-Inoue M, Toyoda M, Neilson A, Blanner P, Brown CM, Semenkovich CF, Marshall BA, Hershey T, Umezawa A, Greer PA, Urano F. Lu S, et al. Among authors: marshall ba. Proc Natl Acad Sci U S A. 2014 Dec 9;111(49):E5292-301. doi: 10.1073/pnas.1421055111. Epub 2014 Nov 24. Proc Natl Acad Sci U S A. 2014. PMID: 25422446 Free PMC article.
Balance impairment in individuals with Wolfram syndrome.
Pickett KA, Duncan RP, Paciorkowski AR, Permutt MA, Marshall B, Hershey T, Earhart GM; Washington University Wolfram Study Group. Pickett KA, et al. Gait Posture. 2012 Jul;36(3):619-24. doi: 10.1016/j.gaitpost.2012.06.008. Epub 2012 Jul 6. Gait Posture. 2012. PMID: 22771154 Free PMC article.
Early brain vulnerability in Wolfram syndrome.
Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA; Washington University Wolfram Study Group. Hershey T, et al. PLoS One. 2012;7(7):e40604. doi: 10.1371/journal.pone.0040604. Epub 2012 Jul 11. PLoS One. 2012. PMID: 22792385 Free PMC article.
Reliability and validity of the Wolfram Unified Rating Scale (WURS).
Nguyen C, Foster ER, Paciorkowski AR, Viehoever A, Considine C, Bondurant A, Marshall BA, Hershey T; Washington University Wolfram Study Group. Nguyen C, et al. Among authors: marshall ba. Orphanet J Rare Dis. 2012 Nov 14;7:89. doi: 10.1186/1750-1172-7-89. Orphanet J Rare Dis. 2012. PMID: 23148655 Free PMC article.
Early presentation of gait impairment in Wolfram Syndrome.
Pickett KA, Duncan RP, Hoekel J, Marshall B, Hershey T, Earhart GM; Washington University Wolfram Study Group. Pickett KA, et al. Orphanet J Rare Dis. 2012 Dec 8;7:92. doi: 10.1186/1750-1172-7-92. Orphanet J Rare Dis. 2012. PMID: 23217193 Free PMC article.
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, Viehover A, White NH, Shimony JS, Manwaring L, Austin P, Hullar TE, Hershey T; Washington University Wolfram Study Group. Marshall BA, et al. Orphanet J Rare Dis. 2013 Apr 27;8:64. doi: 10.1186/1750-1172-8-64. Orphanet J Rare Dis. 2013. PMID: 23981289 Free PMC article.
Selective cognitive and psychiatric manifestations in Wolfram Syndrome.
Bischoff AN, Reiersen AM, Buttlaire A, Al-Lozi A, Doty T, Marshall BA, Hershey T; Washington University Wolfram Syndrome Research Group. Bischoff AN, et al. Among authors: marshall ba. Orphanet J Rare Dis. 2015 May 30;10:66. doi: 10.1186/s13023-015-0282-1. Orphanet J Rare Dis. 2015. PMID: 26025012 Free PMC article.
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Lugar HM, Koller JM, Rutlin J, Marshall BA, Kanekura K, Urano F, Bischoff AN, Shimony JS, Hershey T; Washington University Wolfram Syndrome Research Study Group. Lugar HM, et al. Among authors: marshall ba. Sci Rep. 2016 Feb 18;6:21167. doi: 10.1038/srep21167. Sci Rep. 2016. PMID: 26888576 Free PMC article. Clinical Trial.
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.
62 results